g.100181170G>Cg.100181170G>C
c.1295C>Gc.1295C>G
p.Pro432Argp.Pro432Arg
probably damagingprobably damaging
g.100207773C>Gg.100207773C>G
c.390G>Cc.390G>C
p.Trp130Cysp.Trp130Cys